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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Mucopolysaccharidosis
- HPO
- HP:0008155
37articles
37mentions
10co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
PMID 31473686 | DOI 10.1515/jpem-2019-0188 · Journal of pediatric endocrinology & metabolism : JPEM · 2019 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | mucopolysaccharidosis | “Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.P533R | “The variant c.1469T > C (p.L490P) was mapped in five unrelated patients and c.784delC (p.H262Tfs*55) was mapped in three unrelated patients, while mutations c.1598C > G (p.P533R), c.314G > A (p.R105Q) and c.1277ins9 (p.[A394-L395-L396]) were mapped in a single patient each.” | 0.95 | hgvs_regex_v1 |
| gene | IDUA | “Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.” | 0.98 | hgnc_dict_v1 |
| phenotype | inborn error of metabolism | “Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1.” | 0.93 | phenotype_alias_lexicon_v2 |